{"id":"W2473057142","doi":"10.1093/hmg/ddw223","title":"An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression","year":2016,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Public Health Ontario; University of Toronto; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Université Laval; Centre hospitalier universitaire de Québec","funders":"Instituto de Salud Carlos III; Cancer Council Tasmania; Cancer Council NSW; Medical Research Council; U.S. Army; Medical Research and Materiel Command; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; National Health and Medical Research Council; Institut National Du Cancer; Cancer Council Victoria; Deutsche Krebshilfe; Medizinischen Hochschule Hannover; Stockholms Läns Landsting; National Cancer Institute; Kuopion Yliopistollinen Sairaala; Karolinska Institutet; Ministerio de Economía y Competitividad; Cancer Institute NSW; Fonds Wetenschappelijk Onderzoek; Cancerfonden; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Agence Nationale de la Recherche; Bundesministerium für Bildung und Forschung; National Breast Cancer Foundation; King's College London; National Institute for Health and Care Research; Herlev Hospital; World Health Organization; Cancer Research UK; University of Westminster; Francis Crick Institute; National Institutes of Health; Deutsche Gesetzliche Unfallversicherung; David F. and Margaret T. Grohne Family Foundation; Cancer Council South Australia; Ligue Contre le Cancer; Deutsches Krebsforschungszentrum; Fondation de France; California Department of Public Health; Sundhed og Sygdom, Det Frie Forskningsråd; Associazione Italiana per la Ricerca sul Cancro; Itä-Suomen Yliopisto; Robert Bosch Stiftung; Helsingin ja Uudenmaan Sairaanhoitopiiri; European Commission; Breast Cancer Research Foundation; Memorial Sloan-Kettering Cancer Center","keywords":"Biology; Breast cancer; Genetics; Genome-wide association study; Genotype; Enhancer; Locus (genetics); Case-control study; Single-nucleotide polymorphism; Cancer; Internal medicine; Gene; Medicine; Gene expression","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002237753,0.0002786486,0.0001987579,0.00007124131,0.0002105937,0.00005853801,0.0002858106,0.000223974,0.0001404636],"category_scores_gemma":[0.0000179479,0.0002410643,0.00008767571,0.00007073522,0.00008196888,0.00001995104,0.0001157063,0.0001229914,0.000004669165],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006668675,"about_ca_system_score_gemma":0.00005483018,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004531371,"about_ca_topic_score_gemma":0.0006611116,"domain_scores_codex":[0.9981046,0.0003047659,0.0004222244,0.0005954639,0.0001638037,0.0004091953],"domain_scores_gemma":[0.9988912,0.000008612026,0.0002615677,0.0005699312,0.000124308,0.0001443566],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005520242,0.00008857774,0.05189321,0.000007316895,0.00003833177,0.000002690614,0.0002374217,0.002717425,0.9367232,0.00003594682,0.00004237143,0.008158351],"study_design_scores_gemma":[0.001186483,0.0004719773,0.05841314,0.00008243052,0.00005322678,0.00001318083,0.000289057,0.0009536988,0.9370736,0.0006321609,0.0003163085,0.0005147083],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9774208,0.001752062,0.0202259,0.00002455555,0.00008267506,0.0001899215,0.000242697,0.0000238737,0.00003749534],"genre_scores_gemma":[0.9975805,0.0006309007,0.001150367,0.00004411647,0.0001859104,0.00006445288,0.0001944642,0.00006428333,0.00008499862],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02015968,"threshold_uncertainty_score":0.9830317,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005064336638778128,"score_gpt":0.2460550359894765,"score_spread":0.2409906993506984,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}